828:
397:
632:
876:
42:
222:). The condition typically manifests in childhood or adolescence, with initial symptoms including difficulty walking, loss of balance, and poor coordination. As the disease progresses, it can also impact speech, vision, and hearing. Many individuals with Friedreich's ataxia develop scoliosis, diabetes, and hypertrophic cardiomyopathy, a serious heart condition that is a leading cause of mortality in patients.
5585:
2376:
2190:
679:
to help manage spasticity and prevent deformities. Other physical therapy goals include increased transfer and locomotion independence, muscle strengthening, increased physical resilience, "safe fall" strategy, learning to use mobility aids, learning how to reduce the body's energy expenditure, and developing specific breathing patterns. Speech therapy can improve voice quality.
811:. Haplogroup R1b is the most frequently occurring paternal lineage in Western Europe. FRDA and Haplogroup R1b are more common in northern Spain, Ireland, and France, rare in Russia and Scandinavia, and follow a gradient through central and eastern Europe. A population carrying the disease went through a
678:
Physical therapy typically includes intensive motor coordination, balance, and stabilization training to preserve gains. Low-intensity strengthening exercises are incorporated to maintain functional use of the upper and lower extremities. Stretching and muscle relaxation exercises can be prescribed
244:
as the first treatment for
Friedreich's ataxia. This medication works by reducing oxidative stress and inflammation in neurons, which helps improve motor function in some patients. Ongoing research continues to explore potential therapies aimed at increasing frataxin levels, protecting mitochondria,
803:
FRDA affects Indo-European populations. It is rare in East Asians, sub-Saharan
Africans, and Native Americans. FRDA is the most prevalent inherited ataxia, affecting approximately 1 in 40,000 with European descent. Males and females are affected equally. The estimated carrier prevalence is 1:100. A
371:
The progressive loss of coordination and muscle strength leads to the full-time use of a wheelchair. Most young people diagnosed with FRDA require mobility aids such as a cane, walker, or wheelchair by early 20s. The disease is progressive, with increasing staggering or stumbling gait and frequent
970:
There are several additional therapies in trial. Patients can enroll in a registry to make clinical trial recruiting easier. The
Friedreich's Ataxia Global Patient Registry is the only worldwide registry of Friedreich's ataxia patients to characterize the symptoms and establish the rate of disease
2401:
321:
People who have been living with FRDA for a long time may develop other complications. 36.8% experience decreased visual acuity, which may be progressive and could lead to functional blindness. Hearing loss is present in about 10.9% of cases. Some patients report bladder and bowel symptoms.
528:
Without frataxin, the energy in the mitochondria falls, and excess iron creates extra ROS, leading to further cell damage. Low frataxin levels lead to insufficient biosynthesis of iron–sulfur clusters that are required for mitochondrial electron transport and assembly of functional
233:, a protein essential for mitochondrial function, particularly in iron-sulfur cluster biogenesis. The deficiency of frataxin disrupts cellular energy production and leads to oxidative stress, contributing to the neurological and systemic symptoms associated with the disorder.
3806:
Miller JL, Rai M, Frigon NL, Pandolfo M, Punnonen J, Spencer JR (September 2017). "Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo".
942:
is a 2023 film, based on a true story, directed by Joseph Nenci. Italo is a light-hearted journalist, darkened by a personal drama that distracts him from work. He encounters with
Giorgia, a young girl suffering from Friedreich's Ataxia, who will change his life.
608:
Physicians and patients can reference the clinical management guidelines for
Friedreich ataxia. These guidelines are intended to assist qualified healthcare professionals in making informed treatment decisions about the care of individuals with Friedreich ataxia.
485:
Degeneration of nerve tissue in the spinal cord causes ataxia. The sensory neurons essential for directing muscle movement of the arms and legs through connections with the cerebellum are particularly affected. The disease primarily affects the spinal cord and
2393:
2767:
Leonardi L, Aceto MG, Marcotulli C, Arcuria G, Serrao M, Pierelli F, et al. (March 2017). "A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study".
245:
and addressing the genetic cause of the disease. Although life expectancy may be reduced, particularly due to cardiac complications, advancements in care and treatment have improved outcomes for many individuals with
Friedreich's ataxia.
674:
Physical therapists play a critical role in educating on correct posture, muscle use, and the identification and avoidance of features that aggravate spasticities such as tight clothing, poorly adjusted wheelchairs, pain, and infection.
654:
The most common side effects include an increase in alanine transaminase and an increase of aspartate aminotransferase, which can be signs of liver damage, headache, nausea, abdominal pain, fatigue, diarrhea and musculoskeletal pain.
215:
is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination
504:
Structures in the brain are also affected by FRDA, notably the dentate nucleus of the cerebellum. The heart often develops some fibrosis, and over time, develops left-ventricle hypertrophy and dilatation of the left ventricle.
473:
in the other. A missense point mutation can have milder symptoms. Depending on the point mutation, cells can produce no frataxin, nonfunctional frataxin, or frataxin that is not properly localized to the mitochondria.
4041:
4117:
4102:
3541:
3398:
3368:
3221:
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, et al. (March 1996). "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion".
5605:
3867:
Alfedi G, Luffarelli R, Condò I, Pedini G, Mannucci L, Massaro DS, et al. (March 2019). "Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia".
313:. Scoliosis is present in about 60%. 7% of people with FRDA also have diabetes and having diabetes has an adverse impact on people with FA, especially those that show symptoms when young.
768:
Surgery may correct deformities caused by abnormal muscle tone. Titanium screws and rods inserted in the spine help prevent or slow the progression of scoliosis. Surgery to lengthen the
3620:
2175:
1657:
Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, et al. (February 1999). "Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes".
1322:
4712:
2361:
3308:
4049:
1078:
screening to increase frataxin levels in peripheral cells. Fratagene
Therapeutics is developing a small molecule called RNF126 to inhibit an enzyme which degrades frataxin.
5098:
5093:
2322:
788:
The disease evolves differently in different people. In general, those diagnosed at a younger age or with longer GAA triplet expansions tend to have more severe symptoms.
5313:
5110:
5088:
525:(ROS) to maintain normal processes. One result of frataxin deficiency is mitochondrial iron overload, which damages many proteins due to effects on cellular metabolism.
3549:
3338:
2948:"Prevalence gradients of Friedreich's ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge"
435:
near the repeat. The length of the shorter GAA repeat is correlated with the age of onset and disease severity. The formation of heterochromatin results in reduced
253:
Symptoms typically start between the ages of 5 and 15, but in late-onset FRDA, they may occur after age 25 years. The symptoms are broad, but consistently involve
5416:
4261:
1749:
Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, et al. (March 2016). "Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia".
2460:
3390:
3360:
1914:"Mammalian iron–sulfur cluster biogenesis: Recent insights into the roles of frataxin, acyl carrier protein and ATPase-mediated transfer to recipient proteins"
521:, the energy molecule necessary to carry out metabolic functions in cells. It also regulates iron transfer in the mitochondria by providing a proper amount of
545:, and signs of other neurological problems are common signs from a physical examination. Diagnostic tests are made to confirm a physical examination such as
3479:"Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model"
1050:
has been shown to increase frataxin levels in FRDA cells, mouse models, and humans. DMF showed an 85% increase in frataxin expression over 3 months in
3912:"E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia"
951:
There is no cure for
Friedreich's ataxia, and treatment development is directed toward slowing, stopping, or reversing disease progression. In 2019,
2394:"Reata Pharmaceuticals Announces FDA Approval of Skyclarys (Omavaloxolone), the First and Only Drug Indicated for Patients with Friedreich's Ataxia"
5191:
4457:
3082:
Friedreich N (1863). "Ueber degenerative
Atrophie der spinalen Hinterstränge" [About degenerative atrophy of the spinal posterior column].
3047:
Friedreich N (1863). "Ueber degenerative
Atrophie der spinalen Hinterstränge" [About degenerative atrophy of the spinal posterior column].
3012:
Friedreich N (1863). "Ueber degenerative Atrophie der spinalen Hinterstränge" [About degenerative atrophy of the spinal posterior column].
236:
There is currently no cure for Friedreich's ataxia, but treatment focuses on symptom management and slowing disease progression. In 2023, the U.S.
5446:
501:
of the spinal cord are affected to a lesser extent than sensory neurons. In peripheral nerves, a loss of large myelinated sensory fibers occurs.
4452:
2215:
2546:
Text was copied from this source which is copyright European Medicines Agency. Reproduction is authorized provided the source is acknowledged.
3959:
2171:
1318:
5409:
5292:
5250:
4254:
372:
falling. By the third decade, affected people lose the ability to stand or walk without assistance and require a wheelchair for mobility.
5484:
3159:
2533:
691:
can promote correct posture, support normal joint alignment, stabilize joints during walking, improve range of motion and gait, reduce
5630:
5080:
657:
Omaveloxolone was approved for medical use in the United States in February 2023, and in the European Union in February 2024. The US
310:
2349:
5208:
3298:
1129:
439:
of the gene and low levels of frataxin. People with FDRA might have 5-35% of the frataxin protein compared to healthy individuals.
3993:"Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts"
1469:"Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease"
1269:
5620:
5402:
5070:
4247:
804:
1990–1996 study of Europeans calculated the incidence rate was 2.8:100,000. The prevalence rate of FRDA in Japan is 1:1,000,000.
2314:
497:. The diameter of the spinal cord is smaller than that of unaffected individuals mainly due to smaller dorsal root ganglia. The
5610:
5245:
5050:
4723:
2482:
Subramony SH, Lynch DL (May 2023). "A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia".
1068:. They are small molecules erythropoietin receptor agonists designed to activate the tissue-protective erythropoietin receptor.
777:
5075:
4707:
2666:
2853:
1670:
1118:-mediated delivery of the FXN gene has been shown to increase frataxin expression and prevent DNA damage in human and mouse
5454:
5184:
4913:
4901:
4363:
3330:
3528:"A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Friedreich's Ataxia (MOXIe)"
4132:
2813:"Demographic and clinical features and rehabilitation outcomes of patients with Friedreich ataxia: A retrospective study"
911:
585:
4079:
1363:
5132:
5065:
4620:
2571:
2066:
Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB, Clinical Management Guidelines Writing Group (November 2014).
3960:"Jupiter Orphan Therapeutics, Inc. Enters into a Global Licensing Agreement with Murdoch Childrens Research Institute"
2424:
593:
5221:
4835:
4638:
992:
698:
907:, an athlete with FRDA who completes a long-distance bike race in an adaptive "trike" to raise money for research.
702:
971:
progression. The Friedreich's Ataxia App is the only global community app which enables novel forms of research.
5615:
5384:
5274:
5216:
5177:
4954:
5369:
4469:
4445:
4275:
3749:"Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia"
416:
3850:
1966:"Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia"
5437:
5148:
5033:
4949:
4891:
4661:
4440:
5335:
5117:
4491:
3422:"Topical application of the synthetic triterpenoid RTA 408 protects mice from radiation-induced dermatitis"
2565:
2355:
937:
658:
323:
237:
446:
of the mutant FXN gene have 50% lower frataxin levels, but this decrease is not enough to cause symptoms.
4627:
306:
285:. Cardiac issues are very common with early onset FRDA . Most individuals develop heart problems such as
273:
There is some variability in symptom frequency, onset and progression. All individuals with FRDA develop
5575:
5341:
5105:
4655:
4327:
4227:
1026:
570:
1104:-based approach might unsilence the FXN gene and increase the expression of frataxin. Non-coding RNA (
5425:
5268:
5055:
5023:
4997:
4975:
4824:
4403:
3477:
Shan Y, Schoenfeld RA, Hayashi G, Napoli E, Akiyama T, Iodi Carstens M, et al. (November 2013).
2529:
1559:
Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, et al. (August 1997).
956:
827:
662:
3991:
Khonsari H, Schneider M, Al-Mahdawi S, Chianea YG, Themis M, Parris C, et al. (December 2016).
2207:
5122:
4896:
4310:
4143:
4042:"CRISPR Therapeutics Receives FARA Grant to Develop Gene Editing Therapies for Friedreich's Ataxia"
848:
816:
749:
550:
3966:
795:
are the leading causes of death, but people with fewer symptoms can live into their 60s or older.
5459:
5429:
5127:
5060:
4816:
4634:
4486:
4476:
4320:
522:
436:
96:
4239:
3712:
Indelicato E, Bosch S (2018). "Emerging therapeutics for the treatment of Friedreich's ataxia".
5625:
5561:
5521:
5514:
5473:
5469:
5260:
4984:
4939:
4615:
4587:
4435:
3156:
1700:
Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, et al. (August 2015).
924:
Shobhika Kalra is an activist with FRDA who helped build over 1000 wheelchair ramps across the
518:
4183:
3671:
Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, et al. (January 2012).
2525:
2017:"Role of Frataxin, a Protein Implicated in Friedreich Ataxia, in Making Iron-Sulfur Clusters♦"
5308:
5200:
5007:
4881:
4699:
4677:
4592:
4515:
4425:
4412:
4337:
2593:
Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, et al. (February 2016).
952:
812:
274:
3391:"Shobhika Kalra: Meet the Dubai woman in wheelchair who helped build 1,000 ramps across UAE"
1964:
Sahdeo S, Scott BD, McMackin MZ, Jasoliya M, Brown B, Wulff H, et al. (December 2014).
5464:
4944:
4761:
4650:
3760:
3747:
Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, et al. (June 2019).
3433:
3273:
3230:
1029:
in the lipids were made more rigid and less susceptible to oxidation by the replacement of
925:
709:
589:
5394:
4194:
3910:
Benini M, Fortuni S, Condò I, Alfedi G, Malisan F, Toschi N, et al. (February 2017).
1467:
Clark E, Johnson J, Dong YN, Mercado-Ayon, Warren N, Zhai M, et al. (November 2018).
8:
4873:
4520:
4375:
4315:
4121:
1214:
McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, et al. (2017).
1125:
844:
574:
514:
330:
298:
91:
Muscle weakness, ataxia, fatigue, speech difficulties, scoliosis, heart disease, diabetes
3764:
3571:
Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, et al. (January 2019).
3437:
3234:
577:
of brain and spinal cord are done to rule out other neurological conditions. Finally, a
5543:
5507:
5493:
5043:
5028:
5016:
4766:
4717:
4554:
4417:
4305:
4017:
3992:
3936:
3911:
3892:
3832:
3783:
3748:
3729:
3597:
3573:"Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia"
3572:
3503:
3478:
3459:
3254:
3138:
3099:
3064:
3029:
2977:
2878:
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. (October 1996).
2840:
2793:
2708:
2684:"Feasibility and Acceptability of Lee Silverman Voice Treatment in Progressive Ataxias"
2683:
2619:
2594:
2507:
2452:
2286:
2259:
2143:
2118:
2094:
2067:
2048:
2043:
2016:
1990:
1965:
1938:
1913:
1889:
1862:
1836:
1774:
1726:
1701:
1682:
1631:
1604:
1518:
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. (October 1996).
1495:
1468:
1300:
1240:
1215:
1191:
1166:
1075:
1051:
792:
712:
such as a cane, walker, or wheelchair may be required for mobility and independence. A
86:
4126:
2260:"Clinical management guidelines for Friedreich ataxia: Best practice in rare diseases"
566:
4806:
4772:
4744:
4735:
4667:
4643:
4510:
4358:
4154:
4022:
3941:
3884:
3824:
3820:
3788:
3694:
3673:"Initial experience in the treatment of inherited mitochondrial disease with EPI-743"
3602:
3508:
3451:
3246:
3203:
3180:
Barbeau A, Sadibelouiz M, Roy M, Lemieux B, Bouchard JP, Geoffroy G (November 1984).
2969:
2928:
2901:
2845:
2785:
2713:
2662:
2624:
2511:
2499:
2456:
2444:
2291:
2148:
2099:
2052:
1995:
1943:
1894:
1840:
1828:
1766:
1731:
1674:
1636:
1582:
1541:
1500:
1449:
1411:
1292:
1245:
1196:
1047:
918:
880:
773:
554:
487:
454:
154:
70:
3896:
3733:
3463:
3258:
3142:
3103:
3068:
3033:
2981:
2797:
1778:
1686:
1304:
1268:
Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, et al. (2018).
5318:
4929:
4800:
4795:
4580:
4575:
4012:
4004:
3931:
3923:
3876:
3816:
3778:
3768:
3721:
3684:
3592:
3584:
3498:
3490:
3441:
3361:"Man with rare nerve condition climbs Mount Kilimanjaro to raise money for charity"
3238:
3193:
3130:
3091:
3056:
3021:
2959:
2891:
2835:
2827:
2777:
2747:
2703:
2695:
2654:
2614:
2606:
2491:
2436:
2281:
2271:
2138:
2130:
2089:
2079:
2038:
2028:
1985:
1977:
1933:
1925:
1884:
1874:
1818:
1758:
1721:
1713:
1666:
1626:
1616:
1572:
1531:
1490:
1480:
1441:
1401:
1284:
1235:
1227:
1186:
1178:
988:
984:
326:
3851:"STATegics, Inc. Announces a New Grant from Friedreich's Ataxia Research Alliance"
3836:
3725:
3527:
3242:
2811:
Doğan-Aslan M, Büyükvural-Şen S, Nakipoğlu-Yüzer GF, Özgirgin N (September 2018).
5589:
4851:
4542:
4205:
4148:
3927:
3773:
3646:
3163:
2812:
2258:
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, et al. (2022).
1445:
1288:
1010:
892:
887:
860:
A 1984 Canadian study traced 40 cases to one common ancestral couple arriving in
769:
578:
462:
443:
432:
3689:
3672:
2896:
2879:
2810:
1536:
1519:
5355:
5285:
5280:
5240:
5232:
4908:
4857:
4685:
4394:
4271:
3303:
3000:
2995:
2699:
2495:
2440:
2276:
1929:
1693:
1097:(vitamin B3) was found effective in preclinical FRDA models and well tolerated.
1065:
1018:
808:
713:
597:
558:
546:
470:
365:
353:
101:
4216:
4159:
4111:
3331:"How the DNC Is Subtly Rebuking Donald Trump's Mockery of a Disabled Reporter"
3198:
3181:
2781:
2752:
2735:
2658:
2084:
1823:
1806:
1621:
716:
can help reduce the secondary complications of prolonged use of a wheelchair.
5599:
4934:
4886:
4756:
4525:
4481:
4332:
2549:
2380:
2194:
2134:
1390:"Clinical features of Friedreich's ataxia: classical and atypical phenotypes"
1359:
1216:"Impact of diabetes in the Friedreich ataxia clinical outcome measures study"
1132:
to investigate gene editing as a potential treatment for the disease in 2017.
977:
960:
745:
725:
640:
624:
494:
388:, cardiomyopathy and diabetes are more frequent among the early-onset cases.
357:
294:
241:
177:
2831:
2556:
2033:
4430:
4300:
4283:
4026:
3945:
3888:
3828:
3792:
3698:
3606:
3512:
3455:
2973:
2849:
2789:
2717:
2628:
2503:
2448:
2295:
2152:
2103:
1999:
1947:
1898:
1832:
1770:
1735:
1640:
1577:
1560:
1504:
1453:
1415:
1296:
1249:
1200:
1094:
1022:
854:
741:
498:
440:
361:
286:
3494:
3250:
3207:
2932:
2905:
2649:
Chien H, Barsottini O (10 December 2016). Chien HF, Barsottini OG (eds.).
1678:
1586:
1561:"The Friedreich ataxia GAA triplet repeat: premutation and normal alleles"
1545:
1388:
Parksinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P (August 2013).
631:
5169:
4389:
4350:
4292:
4211:
4178:
2880:"Clinical and genetic abnormalities in patients with Friedreich's ataxia"
1981:
1879:
1520:"Clinical and genetic abnormalities in patients with Friedreich's ataxia"
1182:
1119:
1109:
1088:
996:
917:
Geraint Williams in an athlete affected by FRDA who is known for scaling
904:
899:
867:
FRDA was first linked to a GAA repeat expansion on chromosome 9 in 1996.
302:
290:
144:
3420:
Reisman SA, Lee CY, Meyer CJ, Proksch JW, Sonis ST, Ward KW (May 2014).
408:) on chromosome 9, which produces an important protein called frataxin.
4500:
4370:
4200:
4008:
3134:
3095:
3060:
3025:
2344:
2342:
2340:
1485:
1115:
1071:
1041:
861:
753:
737:
692:
644:
562:
428:
337:
278:
262:
172:
41:
4094:
3880:
3542:"FARA – Part 2 of the Phase II MOXIe study (RTA 408 or omaveloxolone)"
3446:
3421:
2964:
2947:
2610:
1762:
1406:
1389:
4610:
4561:
4549:
4532:
4464:
4189:
3588:
3119:"Ueber Ataxie mit besonderer Berücksichtigung der hereditären Formen"
1717:
1231:
1167:"Friedreich's ataxia: Clinical features, pathogenesis and management"
1034:
1002:
840:
836:
729:
542:
530:
482:
FRDA affects the nervous system, heart, pancreas, and other systems.
385:
381:
349:
341:
184:
105:
75:
3118:
2337:
2309:
2307:
2305:
565:
for elevated glucose levels and vitamin E levels, and scans such as
5085:
Spinal muscular atrophy with lower extremity predominance (SMALED)
4790:
4782:
4748:
4602:
4505:
4222:
3121:[About ataxia with special reference to hereditary forms].
1742:
1671:
10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U
1030:
1017:
polyunsaturated fatty acid which is one of the major components of
733:
688:
648:
458:
450:
345:
230:
109:
79:
49:
3990:
5606:
Systemic atrophies primarily affecting the central nervous system
4269:
4074:
2379:
This article incorporates text from this source, which is in the
2302:
2193:
This article incorporates text from this source, which is in the
1387:
1014:
757:
424:
4137:
2068:"Consensus clinical management guidelines for Friedreich ataxia"
1807:"Friedreich ataxia- pathogenesis and implications for therapies"
1558:
396:
281:
and loss of lower limb reflexes, and more than 90% present with
5363:
4829:
4570:
4537:
4106:
3220:
2117:
Brigatti KW, Deutsch EC, Lynch DR, Farmer JM (September 2012).
1861:
Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V (2019).
1432:
Klockgether T (August 2011). "Update on degenerative ataxias".
1213:
466:
420:
282:
258:
218:
2766:
2237:
974:
As of May 2021, research continues along the following paths.
875:
360:). Symptoms can involve the dorsal column such as the loss of
5349:
1860:
1105:
1006:
929:
513:
The exact role of frataxin remains unclear. Frataxin assists
404:
FRDA is an autosomal-recessive disorder that affects a gene (
3179:
2518:
1699:
1466:
5424:
3866:
3476:
2174:. National Institute of Neurological Disorders and Stroke.
1963:
1702:"Frataxin levels in peripheral tissue in Friedreich ataxia"
964:
963:
or Omav) to target activation of a transcriptional factor,
835:
The condition is named after the nineteenth century German
647:
used for the treatment of Friedreich's ataxia. It is taken
254:
159:
Clinical evaluation, genetic testing, MRI, electromyography
2475:
2416:
2116:
1267:
978:
Improve mitochondrial function and reduce oxidative stress
493:
The spinal cord becomes thinner and nerve cells lose some
3746:
2736:"Physical Therapy and Rehabilitation for Ataxic Patients"
2065:
1101:
3909:
3670:
2592:
2257:
1605:"Friedreich Ataxia: current status and future prospects"
1064:
EPO mimetics are orally available peptide imitations of
3805:
3299:"Devastating Diagnosis Pushes Local Man To Live Bigger"
2877:
2820:
Turkish Journal of Physical Medicine and Rehabilitation
2681:
1517:
1058:
400:
FRDA has an autosomal-recessive pattern of inheritance.
3570:
3419:
2350:"FDA approves first treatment for Friedreich's ataxia"
1074:, an antiviral drug used to treat HIV, was found in a
517:
synthesis in the electron transport chain to generate
5573:
1804:
1656:
1013:
synthetic homologue of ethyl linoleate, an essential
4084:
1082:
1042:
Modulation of frataxin controlled metabolic pathways
851:. Further observations appeared in a paper in 1876.
1748:
1362:. Friedreich Ataxia Research Alliance (USA). 2014.
1108:) could be responsible for directing the localized
772:can improve independence and mobility to alleviate
2119:"Novel diagnostic paradigms for Friedreich ataxia"
1360:"Friedreich ataxia clinical management guidelines"
449:In about 4% of cases, the disease is caused by a (
225:Friedreich's ataxia is caused by mutations in the
847:. Friedreich reported the disease in 1863 at the
5597:
3530:. 1 October 2020 – via clinicaltrials.gov.
955:reported positive results in a phase 2 trial of
149:Family history (autosomal recessive inheritance)
3711:
2648:
2110:
1911:
1598:
1596:
1383:
1381:
780:can be implanted after a severe heart failure.
719:
541:Balance difficulty, loss of proprioception, an
322:Advanced stages of disease are associated with
3577:Annals of Clinical and Translational Neurology
2733:
2481:
1706:Annals of Clinical and Translational Neurology
1427:
1425:
1220:Annals of Clinical and Translational Neurology
995:(NQO1) enzyme to increase the biosynthesis of
914:about supporting Americans with disabilities.
695:, and prevent foot deformities and scoliosis.
5410:
5185:
4255:
3186:The Canadian Journal of Neurological Sciences
760:to keep cardiac abnormalities under control.
724:Cardiac abnormalities can be controlled with
3984:
3952:
3413:
1800:
1798:
1796:
1794:
1792:
1790:
1788:
1593:
1378:
891:is a 2007 independent drama film that stars
748:. Affected people who also have symptomatic
643:, sold under the brand name Skyclarys, is a
229:gene, which result in reduced production of
4974:
4075:Friedreich's Ataxia Global Patient Registry
3214:
2595:"Emerging therapies in Friedreich's ataxia"
1431:
1422:
1025:. Oxidation damage might be reduced if the
857:wrote his medical thesis on FRDA, in 1951.
533:and iron dysmetabolism of the entire cell.
5417:
5403:
5199:
5192:
5178:
4262:
4248:
3182:"Origin of Friedreich's disease in Quebec"
3116:
3081:
3046:
3011:
2871:
2682:Lowit A, Egan A, Hadjivassiliou M (2020).
2251:
2059:
2011:
2009:
1856:
1854:
1852:
1850:
1164:
40:
4016:
3935:
3843:
3782:
3772:
3688:
3596:
3502:
3445:
3197:
2963:
2895:
2839:
2751:
2729:
2727:
2707:
2618:
2285:
2275:
2230:
2142:
2093:
2083:
2042:
2032:
1989:
1959:
1957:
1937:
1888:
1878:
1822:
1785:
1725:
1630:
1620:
1576:
1535:
1494:
1484:
1405:
1270:"Nonataxia symptoms in Friedreich Ataxia"
1239:
1190:
903:is a documentary that tells the story of
603:
5470:Spinocerebellar ataxia 1, 2, 3, 6, 7, 17
2200:
2166:
2164:
2162:
1652:
1650:
1207:
874:
826:
763:
630:
395:
336:Other later stage symptoms can include,
3903:
3664:
3534:
2921:Rinsho Shinkeigaku = Clinical Neurology
2006:
1847:
1263:
1261:
1259:
594:ataxia-oculomotor apraxia types 1 and 2
5598:
5051:Distal hereditary motor neuronopathies
4724:Template:Demyelinating diseases of CNS
3564:
3520:
3271:
2945:
2724:
2675:
2644:
2642:
2640:
2638:
1954:
1863:"Heart disease in Friedreich's ataxia"
1805:Delatycki MB, Bidichandani SI (2019).
1354:
1352:
1350:
1348:
1346:
1344:
1342:
1340:
1033:atoms with the heavy hydrogen isotope
870:
778:implantable cardioverter-defibrillator
16:Rare autosomal-recessive human disease
5398:
5173:
4243:
4039:
3639:
3613:
3401:from the original on 15 December 2018
3371:from the original on 15 December 2018
3341:from the original on 15 December 2018
2536:from the original on 15 December 2023
2159:
1647:
1160:
1158:
1156:
1154:
1152:
1150:
1148:
1146:
1130:Friedreich's Ataxia Research Alliance
1091:might improve mitochondrial function.
744:, sometimes used in conjunction with
268:
167:Symptom management, physical therapy,
5455:Dentatorubral-pallidoluysian atrophy
4902:Idiopathic intracranial hypertension
4291:
3621:"FA Global Patient Registry (FAGPR)"
3470:
2918:
2859:from the original on 30 October 2018
2599:Neurodegenerative Disease Management
2574:from the original on 10 January 2024
2463:from the original on 9 December 2023
1905:
1602:
1366:from the original on 20 October 2018
1325:from the original on 23 January 2019
1256:
1059:Frataxin replacements or stabilizers
708:As progression of ataxia continues,
375:
189:Progressive; reduced life expectancy
3799:
2884:The New England Journal of Medicine
2635:
2586:
2422:
2400:(Press release). 28 February 2023.
2178:from the original on 26 August 2017
1918:Current Opinion in Chemical Biology
1912:Maio N, Jain A, Rouault TA (2020).
1524:The New England Journal of Medicine
1511:
1460:
1337:
967:. Nrf2 is decreased in FRDA cells.
932:fully wheelchair-friendly by 2020.
912:2016 Democratic National Convention
13:
5133:Infantile progressive bulbar palsy
3625:FA Global Patient Registry (FAGPR)
3483:Antioxidants & Redox Signaling
2653:. Springer, Cham. pp. 83–95.
2315:"Skyclarys- omaveloxolone capsule"
2218:from the original on 31 March 2019
1311:
1143:
983:Vatiquinone is being developed by
477:
380:Non-neurological symptoms such as
205:Often due to cardiac complications
14:
5642:
4836:Template:Cerebrovascular diseases
4639:Frontotemporal lobar degeneration
4068:
3677:Molecular Genetics and Metabolism
3311:from the original on 16 June 2015
2651:Movement Disorders Rehabilitation
2404:from the original on 1 March 2023
2364:from the original on 1 March 2023
2264:Orphanet Journal of Rare Diseases
2072:Orphanet Journal of Rare Diseases
1083:Increase frataxin gene expression
993:NAD(P)H dehydrogenase (quinone 1)
807:FRDA follows the same pattern as
699:Functional electrical stimulation
669:
586:Charcot-Marie-Tooth types 1 and 2
316:
265:and loss of lower limb reflexes.
5631:Diseases named after discoverers
5583:
4856:For more detailed coverage, see
4834:For more detailed coverage, see
4805:For more detailed coverage, see
4771:For more detailed coverage, see
4722:For more detailed coverage, see
3821:10.1016/j.neuropharm.2017.05.011
2374:
2325:from the original on 1 July 2023
2188:
2172:"Friedreich's Ataxia Fact Sheet"
705:devices may alleviate symptoms.
703:transcutaneous nerve stimulation
623:This section is an excerpt from
617:
35:Spinocerebellar ataxia, FRDA, FA
5275:Mitochondrial encephalomyopathy
4033:
3860:
3740:
3705:
3383:
3353:
3323:
3291:
3265:
3173:
3149:
3110:
3075:
3040:
3005:
2988:
2939:
2912:
2804:
2760:
2557:New Drug Therapy Approvals 2023
2425:"Omaveloxolone: First Approval"
2386:
2021:Journal of Biological Chemistry
1552:
798:
612:
417:trinucleotide repeat expansions
5621:Trinucleotide repeat disorders
3714:Expert Opinion on Orphan Drugs
3123:Arch Pathol Anat Phys Klin Med
3084:Arch Pathol Anat Phys Klin Med
3049:Arch Pathol Anat Phys Klin Med
3014:Arch Pathol Anat Phys Klin Med
1319:"Friedreich Ataxia Fact Sheet"
584:Other diagnoses might include
1:
5611:Autosomal recessive disorders
5149:Amyotrophic lateral sclerosis
5034:Hereditary spastic paraplegia
4892:Normal pressure hydrocephalus
3726:10.1080/21678707.2018.1409109
3243:10.1126/science.271.5254.1423
2734:Ojoga F, Marinescu S (2013).
1136:
791:Congestive heart failure and
62:/ˈfriːdraɪks əˈtæksiə/.
5118:Progressive muscular atrophy
3928:10.1016/j.celrep.2017.01.079
3774:10.1371/journal.pone.0217776
2919:Kita K (December 1993). "".
2566:Food and Drug Administration
2356:Food and Drug Administration
2208:"Friedreich ataxia NIH page"
1446:10.1097/WCO.0b013e32834875ba
1434:Current Opinion in Neurology
1289:10.1212/WNL.0000000000006121
895:as a young woman with FRDA.
879:Kyle Bryant training on his
783:
720:Managing Cardiac Involvement
659:Food and Drug Administration
536:
411:In 96% of cases, the mutant
238:Food and Drug Administration
7:
4628:Primary progressive aphasia
4080:NIH's FRDA information page
4040:Melão A (19 October 2017).
3690:10.1016/j.ymgme.2011.10.009
2897:10.1056/NEJM199610173351601
1867:World Journal of Cardiology
1537:10.1056/nejm199610173351601
1027:polyunsaturated fatty acids
946:
921:in an adaptive wheelchair.
910:Dynah Haubert spoke at the
661:(FDA) considers it to be a
508:
465:, with an expansion in one
391:
307:hypertrophic cardiomyopathy
248:
197:1 in 50,000 (United States)
10:
5647:
5447:Polyglutamine (PolyQ), CAG
4950:Hashimoto's encephalopathy
4656:Posterior cortical atrophy
4477:Striatonigral degeneration
4328:Cavernous sinus thrombosis
3272:Holden S (13 March 2009).
2700:10.1007/s12311-020-01153-3
2496:10.1007/s12311-023-01568-8
2441:10.1007/s40265-023-01874-9
2398:Reata Pharmaceuticals Inc.
2277:10.1186/s13023-022-02568-3
2123:Journal of Child Neurology
1930:10.1016/j.cbpa.2019.11.014
1128:received a grant from the
1112:silencing of the FXN gene.
822:
682:
622:
352:and loss of coordination (
213:Friedreich's ataxia (FRDA)
5562:Spinocerebellar ataxia 10
5553:
5544:Myotonic dystrophy type 2
5535:
5522:Spinocerebellar ataxia 12
5508:Myotonic dystrophy type 1
5483:
5445:
5436:
5426:Non-Mendelian inheritance
5380:
5327:
5301:
5259:
5230:
5207:
5056:Spinal muscular atrophies
5024:Primary lateral sclerosis
5006:
4983:
4967:
4922:
4882:Intracranial hypertension
4872:
4844:
4815:
4781:
4743:
4732:
4698:
4676:
4662:Creutzfeldt–Jakob disease
4601:
4411:
4402:
4388:
4348:
4282:
4169:
4088:
3199:10.1017/S0317167100034971
2952:Journal of Neurochemistry
2782:10.1007/s10072-016-2800-x
2753:10.12680/balneo.2013.1044
2659:10.1007/978-3-319-46062-8
2532:(EMA). 14 December 2023.
2530:European Medicines Agency
2085:10.1186/s13023-014-0184-7
1824:10.1016/j.nbd.2019.104606
1622:10.1186/s40673-017-0062-x
1394:Journal of Neurochemistry
1165:Cook A, Giunti P (2017).
819:during the last ice age.
663:first-in-class medication
581:is conducted to confirm.
431:changes and formation of
201:
193:
183:
171:
163:
153:
143:
131:
123:
115:
95:
85:
69:
55:
48:
39:
31:
26:
5515:Spinocerebellar ataxia 8
5370:Mohr–Tranebjærg syndrome
5123:Progressive bulbar palsy
4914:Intracranial hypotension
4897:Choroid plexus papilloma
4311:Herpesviral encephalitis
4046:Friedreich's Ataxia News
2946:Vankan P (August 2013).
2570:(Report). January 2024.
2135:10.1177/0883073812448440
1970:Human Molecular Genetics
1609:Cerebellum & Ataxias
1565:Human Molecular Genetics
1400:(Supplement 1): 103–17.
1171:British Medical Bulletin
928:in 2018 to try to make
849:University of Heidelberg
817:Franco-Cantabrian region
750:congestive heart failure
551:nerve conduction studies
427:. This expansion causes
366:proprioceptive sensation
287:enlargement of the heart
119:Childhood or adolescence
5342:Kjer's optic neuropathy
5209:Carbohydrate metabolism
4635:Frontotemporal dementia
4321:Encephalitis lethargica
4206:Friedreich's ataxia
3162:12 January 2017 at the
2832:10.5606/tftrd.2018.2213
2740:Balneo Research Journal
2034:10.1074/jbc.P113.525857
1811:Neurobiology of Disease
523:reactive oxygen species
5616:Mitochondrial diseases
5474:Machado-Joseph disease
5385:mitochondrial proteins
5201:Mitochondrial diseases
4940:Hepatic encephalopathy
3168:London Review of Books
3157:"Where Life Is Seized"
883:
832:
793:abnormal heart rhythms
635:
604:Management of Symptoms
519:adenosine triphosphate
415:gene has 90–1,300 GAA
401:
127:Long-term, progressive
4998:Ataxia–telangiectasia
4955:Static encephalopathy
4678:Mitochondrial disease
4516:Spasmodic torticollis
4426:Basal ganglia disease
3495:10.1089/ars.2012.4537
3117:Friedreich N (1876).
2770:Neurological Sciences
953:Reata Pharmaceuticals
938:Butterflies Still Fly
878:
830:
813:population bottleneck
764:Surgical Intervention
634:
399:
275:neurological symptoms
5460:Huntington's disease
4945:Toxic encephalopathy
4651:Lewy bodies dementia
3367:. 25 November 2018.
2360:. 28 February 2023.
1880:10.4330/wjc.v11.i1.1
1578:10.1093/hmg/6.8.1261
926:United Arab Emirates
590:vitamin E deficiency
5501:Friedreich's ataxia
4993:Friedreich's ataxia
4376:Meningoencephalitis
4316:Limbic encephalitis
3765:2019PLoSO..1417776J
3438:2014RadR..181..512R
3397:. 30 October 2018.
3235:1996Sci...271.1423C
2996:Nicolaus Friedreich
2423:Lee A (June 2023).
2027:(52): 36787. 2013.
1751:Annals of Neurology
1659:Annals of Neurology
1126:CRISPR Therapeutics
987:. Vatiquinone is a
871:Society and culture
845:Nikolaus Friedreich
831:Nikolaus Friedreich
598:early-onset ataxias
543:absence of reflexes
515:iron-sulfur protein
362:vibratory sensation
331:atrial fibrillation
299:atrial fibrillation
27:Friedreich's ataxia
5494:Fragile X syndrome
5029:Pseudobulbar palsy
4767:Status epilepticus
4718:Multiple sclerosis
4555:Myoclonic epilepsy
4418:movement disorders
4364:Acute disseminated
4306:Viral encephalitis
4170:External resources
4009:10.1038/gt.2016.61
3869:Movement Disorders
3426:Radiation Research
3278:The New York Times
3192:(4 Suppl): 506–9.
3135:10.1007/BF01879049
3096:10.1007/BF01938516
3061:10.1007/BF01878006
3026:10.1007/BF01930976
2958:(Suppl 1): 11–20.
1982:10.1093/hmg/ddu408
1486:10.1042/NS20180060
1473:Neuronal Signaling
1183:10.1093/bmb/ldx034
1076:drug repositioning
1052:multiple sclerosis
1021:, particularly in
884:
833:
752:may be prescribed
636:
402:
311:conduction defects
269:Classical symptoms
5571:
5570:
5531:
5530:
5485:Non-polyglutamine
5392:
5391:
5302:No primary system
5167:
5166:
5163:
5162:
5159:
5158:
4963:
4962:
4868:
4867:
4807:Template:Headache
4773:Template:Epilepsy
4694:
4693:
4668:Vascular dementia
4511:Status dystonicus
4384:
4383:
4359:Encephalomyelitis
4237:
4236:
4217:Friedreich Ataxia
3881:10.1002/mds.27604
3809:Neuropharmacology
3447:10.1667/RR13578.1
3274:"The Cake Eaters"
3170:, 19 January 2017
2965:10.1111/jnc.12215
2668:978-3-319-46062-8
2611:10.2217/nmt.15.73
2238:"FDRA Guidelines"
2212:NIH Rare diseases
1763:10.1002/ana.24595
1479:(4): NS20180060.
1407:10.1111/jnc.12317
1283:(10): e917–e930.
1048:Dimethyl fumarate
989:para-benzoquinone
919:Mount Kilimanjaro
881:recumbent bicycle
774:equinus deformity
710:assistive devices
555:electrocardiogram
488:peripheral nerves
376:Early-onset cases
209:
208:
155:Diagnostic method
21:Medical condition
5638:
5588:
5587:
5586:
5579:
5443:
5442:
5419:
5412:
5405:
5396:
5395:
5319:Pearson syndrome
5194:
5187:
5180:
5171:
5170:
4981:
4980:
4972:
4971:
4930:Brain herniation
4741:
4740:
4581:Intention tremor
4576:Essential tremor
4441:Postencephalitic
4409:
4408:
4400:
4399:
4289:
4288:
4270:Diseases of the
4264:
4257:
4250:
4241:
4240:
4086:
4085:
4062:
4061:
4059:
4057:
4052:on 21 April 2019
4048:. Archived from
4037:
4031:
4030:
4020:
3988:
3982:
3981:
3979:
3977:
3971:
3965:. Archived from
3964:
3956:
3950:
3949:
3939:
3922:(8): 2007–2017.
3907:
3901:
3900:
3864:
3858:
3857:
3855:
3847:
3841:
3840:
3803:
3797:
3796:
3786:
3776:
3744:
3738:
3737:
3709:
3703:
3702:
3692:
3668:
3662:
3661:
3659:
3657:
3643:
3637:
3636:
3634:
3632:
3627:. 5 October 2017
3617:
3611:
3610:
3600:
3589:10.1002/acn3.660
3568:
3562:
3561:
3559:
3557:
3548:. Archived from
3538:
3532:
3531:
3524:
3518:
3516:
3506:
3474:
3468:
3467:
3449:
3417:
3411:
3410:
3408:
3406:
3387:
3381:
3380:
3378:
3376:
3357:
3351:
3350:
3348:
3346:
3337:. 27 July 2016.
3327:
3321:
3320:
3318:
3316:
3295:
3289:
3288:
3286:
3284:
3269:
3263:
3262:
3229:(5254): 1423–7.
3218:
3212:
3211:
3201:
3177:
3171:
3153:
3147:
3146:
3114:
3108:
3107:
3079:
3073:
3072:
3055:(5–6): 433–459.
3044:
3038:
3037:
3020:(3–4): 391–419.
3009:
3003:
2992:
2986:
2985:
2967:
2943:
2937:
2936:
2916:
2910:
2909:
2899:
2875:
2869:
2868:
2866:
2864:
2858:
2843:
2817:
2808:
2802:
2801:
2764:
2758:
2757:
2755:
2731:
2722:
2721:
2711:
2679:
2673:
2672:
2646:
2633:
2632:
2622:
2590:
2584:
2583:
2581:
2579:
2561:
2553:
2547:
2545:
2543:
2541:
2526:"Skyclarys EPAR"
2522:
2516:
2515:
2479:
2473:
2472:
2470:
2468:
2420:
2414:
2413:
2411:
2409:
2390:
2384:
2378:
2377:
2373:
2371:
2369:
2346:
2335:
2334:
2332:
2330:
2311:
2300:
2299:
2289:
2279:
2255:
2249:
2248:
2246:
2244:
2234:
2228:
2227:
2225:
2223:
2204:
2198:
2192:
2191:
2187:
2185:
2183:
2168:
2157:
2156:
2146:
2114:
2108:
2107:
2097:
2087:
2063:
2057:
2056:
2046:
2036:
2013:
2004:
2003:
1993:
1961:
1952:
1951:
1941:
1909:
1903:
1902:
1892:
1882:
1858:
1845:
1844:
1826:
1802:
1783:
1782:
1746:
1740:
1739:
1729:
1718:10.1002/acn3.225
1697:
1691:
1690:
1654:
1645:
1644:
1634:
1624:
1600:
1591:
1590:
1580:
1556:
1550:
1549:
1539:
1515:
1509:
1508:
1498:
1488:
1464:
1458:
1457:
1429:
1420:
1419:
1409:
1385:
1376:
1375:
1373:
1371:
1356:
1335:
1334:
1332:
1330:
1315:
1309:
1308:
1274:
1265:
1254:
1253:
1243:
1232:10.1002/acn3.439
1211:
1205:
1204:
1194:
1162:
991:and targets the
985:PTC Therapeutics
569:for scoliosis.
567:X-ray radiograph
340:effects such as
329:, most commonly
327:tachyarrhythmias
324:supraventricular
44:
24:
23:
5646:
5645:
5641:
5640:
5639:
5637:
5636:
5635:
5596:
5595:
5594:
5584:
5582:
5574:
5572:
5567:
5554:Pentanucleotide
5549:
5536:Tetranucleotide
5527:
5479:
5465:Kennedy disease
5432:
5423:
5393:
5388:
5376:
5323:
5297:
5255:
5226:
5203:
5198:
5168:
5155:
5081:Congenital DSMA
5002:
4959:
4918:
4864:
4852:Sleep disorders
4840:
4817:Cerebrovascular
4811:
4777:
4734:
4728:
4690:
4672:
4597:
4543:Choreoathetosis
4416:
4393:
4380:
4344:
4278:
4268:
4238:
4233:
4232:
4195:article/1150420
4165:
4164:
4097:
4071:
4066:
4065:
4055:
4053:
4038:
4034:
4003:(12): 846–856.
3989:
3985:
3975:
3973:
3972:on 11 July 2019
3969:
3962:
3958:
3957:
3953:
3908:
3904:
3865:
3861:
3853:
3849:
3848:
3844:
3804:
3800:
3759:(6): e0217776.
3745:
3741:
3710:
3706:
3669:
3665:
3655:
3653:
3645:
3644:
3640:
3630:
3628:
3619:
3618:
3614:
3569:
3565:
3555:
3553:
3552:on 7 March 2020
3540:
3539:
3535:
3526:
3525:
3521:
3489:(13): 1481–93.
3475:
3471:
3418:
3414:
3404:
3402:
3389:
3388:
3384:
3374:
3372:
3359:
3358:
3354:
3344:
3342:
3329:
3328:
3324:
3314:
3312:
3307:. 30 May 2015.
3297:
3296:
3292:
3282:
3280:
3270:
3266:
3219:
3215:
3178:
3174:
3164:Wayback Machine
3154:
3150:
3115:
3111:
3080:
3076:
3045:
3041:
3010:
3006:
2993:
2989:
2944:
2940:
2927:(12): 1279–84.
2917:
2913:
2890:(16): 1169–75.
2876:
2872:
2862:
2860:
2856:
2815:
2809:
2805:
2765:
2761:
2732:
2725:
2680:
2676:
2669:
2647:
2636:
2591:
2587:
2577:
2575:
2559:
2555:
2554:
2550:
2539:
2537:
2524:
2523:
2519:
2480:
2476:
2466:
2464:
2421:
2417:
2407:
2405:
2392:
2391:
2387:
2375:
2367:
2365:
2348:
2347:
2338:
2328:
2326:
2321:. 12 May 2023.
2313:
2312:
2303:
2256:
2252:
2242:
2240:
2236:
2235:
2231:
2221:
2219:
2206:
2205:
2201:
2189:
2181:
2179:
2170:
2169:
2160:
2115:
2111:
2064:
2060:
2015:
2014:
2007:
1976:(25): 6848–62.
1962:
1955:
1910:
1906:
1859:
1848:
1803:
1786:
1747:
1743:
1698:
1694:
1655:
1648:
1603:Bürk K (2017).
1601:
1594:
1557:
1553:
1530:(16): 1169–75.
1516:
1512:
1465:
1461:
1430:
1423:
1386:
1379:
1369:
1367:
1358:
1357:
1338:
1328:
1326:
1317:
1316:
1312:
1272:
1266:
1257:
1212:
1208:
1163:
1144:
1139:
1085:
1061:
1044:
1019:lipid membranes
980:
949:
893:Kristen Stewart
888:The Cake Eaters
873:
825:
801:
786:
776:. An automated
770:Achilles tendon
766:
722:
685:
672:
667:
666:
628:
620:
615:
606:
539:
511:
480:
478:Pathophysiology
433:heterochromatin
394:
378:
348:eye movements,
319:
271:
251:
240:(FDA) approved
211:
65:
22:
17:
12:
11:
5:
5644:
5634:
5633:
5628:
5623:
5618:
5613:
5608:
5593:
5592:
5569:
5568:
5566:
5565:
5557:
5555:
5551:
5550:
5548:
5547:
5539:
5537:
5533:
5532:
5529:
5528:
5526:
5525:
5518:
5511:
5504:
5497:
5489:
5487:
5481:
5480:
5478:
5477:
5467:
5462:
5457:
5451:
5449:
5440:
5434:
5433:
5422:
5421:
5414:
5407:
5399:
5390:
5389:
5381:
5378:
5377:
5375:
5374:
5373:
5372:
5360:
5359:
5358:
5356:HUPRA syndrome
5346:
5345:
5344:
5331:
5329:
5325:
5324:
5322:
5321:
5316:
5311:
5305:
5303:
5299:
5298:
5296:
5295:
5290:
5289:
5288:
5283:
5271:
5265:
5263:
5257:
5256:
5254:
5253:
5248:
5243:
5237:
5235:
5233:nervous system
5228:
5227:
5225:
5224:
5219:
5213:
5211:
5205:
5204:
5197:
5196:
5189:
5182:
5174:
5165:
5164:
5161:
5160:
5157:
5156:
5154:
5153:
5152:
5151:
5140:
5139:
5138:
5137:
5136:
5135:
5130:
5120:
5115:
5114:
5113:
5108:
5103:
5102:
5101:
5096:
5091:
5083:
5078:
5073:
5068:
5063:
5053:
5039:
5038:
5037:
5036:
5031:
5026:
5012:
5010:
5004:
5003:
5001:
5000:
4995:
4989:
4987:
4978:
4969:
4965:
4964:
4961:
4960:
4958:
4957:
4952:
4947:
4942:
4937:
4932:
4926:
4924:
4920:
4919:
4917:
4916:
4911:
4909:Cerebral edema
4906:
4905:
4904:
4899:
4894:
4889:
4878:
4876:
4870:
4869:
4866:
4865:
4863:
4862:
4861:
4860:
4858:Template:Sleep
4848:
4846:
4842:
4841:
4839:
4838:
4832:
4827:
4821:
4819:
4813:
4812:
4810:
4809:
4803:
4798:
4793:
4787:
4785:
4779:
4778:
4776:
4775:
4769:
4764:
4759:
4753:
4751:
4738:
4730:
4729:
4727:
4726:
4720:
4715:
4710:
4704:
4702:
4696:
4695:
4692:
4691:
4689:
4688:
4686:Leigh syndrome
4682:
4680:
4674:
4673:
4671:
4670:
4659:
4658:
4653:
4648:
4647:
4646:
4632:
4631:
4630:
4625:
4624:
4623:
4607:
4605:
4599:
4598:
4596:
4595:
4590:
4585:
4584:
4583:
4578:
4567:
4566:
4565:
4564:
4559:
4558:
4557:
4547:
4546:
4545:
4535:
4530:
4529:
4528:
4523:
4518:
4513:
4497:
4496:
4495:
4494:
4489:
4484:
4479:
4474:
4473:
4472:
4462:
4461:
4460:
4450:
4449:
4448:
4443:
4438:
4422:
4420:
4413:Extrapyramidal
4406:
4397:
4395:encephalopathy
4386:
4385:
4382:
4381:
4379:
4378:
4373:
4368:
4367:
4366:
4355:
4353:
4346:
4345:
4343:
4342:
4341:
4340:
4330:
4325:
4324:
4323:
4318:
4313:
4308:
4297:
4295:
4286:
4280:
4279:
4272:nervous system
4267:
4266:
4259:
4252:
4244:
4235:
4234:
4231:
4230:
4219:
4208:
4197:
4186:
4174:
4173:
4171:
4167:
4166:
4163:
4162:
4151:
4140:
4129:
4114:
4098:
4093:
4092:
4090:
4089:Classification
4083:
4082:
4077:
4070:
4069:External links
4067:
4064:
4063:
4032:
3983:
3951:
3902:
3875:(3): 323–334.
3859:
3842:
3798:
3739:
3704:
3663:
3638:
3612:
3563:
3546:www.curefa.org
3533:
3519:
3469:
3412:
3382:
3352:
3322:
3304:CBS Sacramento
3290:
3264:
3213:
3172:
3148:
3129:(2): 145–245.
3109:
3074:
3039:
3004:
2987:
2938:
2911:
2870:
2826:(3): 230–238.
2803:
2776:(3): 459–463.
2759:
2723:
2694:(5): 701–714.
2688:The Cerebellum
2674:
2667:
2634:
2585:
2548:
2517:
2490:(2): 775–777.
2474:
2435:(8): 725–729.
2415:
2385:
2336:
2301:
2250:
2229:
2199:
2158:
2129:(9): 1146–51.
2109:
2058:
2005:
1953:
1904:
1846:
1784:
1741:
1692:
1646:
1592:
1551:
1510:
1459:
1421:
1377:
1336:
1310:
1255:
1226:(9): 622–631.
1206:
1141:
1140:
1138:
1135:
1134:
1133:
1123:
1113:
1098:
1092:
1084:
1081:
1080:
1079:
1069:
1066:erythropoietin
1060:
1057:
1056:
1055:
1043:
1040:
1039:
1038:
1000:
979:
976:
948:
945:
872:
869:
824:
821:
809:haplogroup R1b
800:
797:
785:
782:
765:
762:
726:ACE inhibitors
721:
718:
714:standing frame
684:
681:
671:
670:Rehabilitation
668:
629:
621:
619:
616:
614:
611:
605:
602:
588:, ataxia with
559:echocardiogram
547:electromyogram
538:
535:
510:
507:
479:
476:
471:point mutation
463:point mutation
393:
390:
377:
374:
354:truncal ataxia
318:
317:Other symptoms
315:
289:, symmetrical
270:
267:
250:
247:
207:
206:
203:
199:
198:
195:
191:
190:
187:
181:
180:
175:
169:
168:
165:
161:
160:
157:
151:
150:
147:
141:
140:
133:
129:
128:
125:
121:
120:
117:
113:
112:
102:Cardiomyopathy
99:
93:
92:
89:
83:
82:
73:
67:
66:
64:
63:
59:
57:
53:
52:
46:
45:
37:
36:
33:
29:
28:
20:
15:
9:
6:
4:
3:
2:
5643:
5632:
5629:
5627:
5626:Rare diseases
5624:
5622:
5619:
5617:
5614:
5612:
5609:
5607:
5604:
5603:
5601:
5591:
5581:
5580:
5577:
5563:
5559:
5558:
5556:
5552:
5545:
5541:
5540:
5538:
5534:
5523:
5519:
5516:
5512:
5509:
5505:
5502:
5498:
5495:
5491:
5490:
5488:
5486:
5482:
5475:
5471:
5468:
5466:
5463:
5461:
5458:
5456:
5453:
5452:
5450:
5448:
5444:
5441:
5439:
5438:Trinucleotide
5435:
5431:
5427:
5420:
5415:
5413:
5408:
5406:
5401:
5400:
5397:
5387:
5386:
5379:
5371:
5368:
5367:
5366:
5365:
5361:
5357:
5354:
5353:
5352:
5351:
5347:
5343:
5340:
5339:
5338:
5337:
5333:
5332:
5330:
5326:
5320:
5317:
5315:
5312:
5310:
5307:
5306:
5304:
5300:
5294:
5291:
5287:
5284:
5282:
5279:
5278:
5277:
5276:
5272:
5270:
5267:
5266:
5264:
5262:
5258:
5252:
5249:
5247:
5244:
5242:
5241:Leigh disease
5239:
5238:
5236:
5234:
5229:
5223:
5220:
5218:
5215:
5214:
5212:
5210:
5206:
5202:
5195:
5190:
5188:
5183:
5181:
5176:
5175:
5172:
5150:
5147:
5146:
5145:
5142:
5141:
5134:
5131:
5129:
5126:
5125:
5124:
5121:
5119:
5116:
5112:
5109:
5107:
5104:
5100:
5097:
5095:
5092:
5090:
5087:
5086:
5084:
5082:
5079:
5077:
5074:
5072:
5069:
5067:
5064:
5062:
5059:
5058:
5057:
5054:
5052:
5049:
5048:
5047:
5045:
5041:
5040:
5035:
5032:
5030:
5027:
5025:
5022:
5021:
5020:
5018:
5014:
5013:
5011:
5009:
5005:
4999:
4996:
4994:
4991:
4990:
4988:
4986:
4982:
4979:
4977:
4973:
4970:
4966:
4956:
4953:
4951:
4948:
4946:
4943:
4941:
4938:
4936:
4935:Reye syndrome
4933:
4931:
4928:
4927:
4925:
4921:
4915:
4912:
4910:
4907:
4903:
4900:
4898:
4895:
4893:
4890:
4888:
4887:Hydrocephalus
4885:
4884:
4883:
4880:
4879:
4877:
4875:
4871:
4859:
4855:
4854:
4853:
4850:
4849:
4847:
4843:
4837:
4833:
4831:
4828:
4826:
4823:
4822:
4820:
4818:
4814:
4808:
4804:
4802:
4799:
4797:
4794:
4792:
4789:
4788:
4786:
4784:
4780:
4774:
4770:
4768:
4765:
4763:
4760:
4758:
4755:
4754:
4752:
4750:
4746:
4742:
4739:
4737:
4731:
4725:
4721:
4719:
4716:
4714:
4711:
4709:
4706:
4705:
4703:
4701:
4700:Demyelinating
4697:
4687:
4684:
4683:
4681:
4679:
4675:
4669:
4666:
4665:
4664:
4663:
4657:
4654:
4652:
4649:
4645:
4642:
4641:
4640:
4636:
4633:
4629:
4626:
4622:
4619:
4618:
4617:
4614:
4613:
4612:
4609:
4608:
4606:
4604:
4600:
4594:
4591:
4589:
4588:Restless legs
4586:
4582:
4579:
4577:
4574:
4573:
4572:
4569:
4568:
4563:
4560:
4556:
4553:
4552:
4551:
4548:
4544:
4541:
4540:
4539:
4536:
4534:
4531:
4527:
4526:Blepharospasm
4524:
4522:
4519:
4517:
4514:
4512:
4509:
4508:
4507:
4504:
4503:
4502:
4499:
4498:
4493:
4490:
4488:
4485:
4483:
4482:Hemiballismus
4480:
4478:
4475:
4471:
4468:
4467:
4466:
4463:
4459:
4456:
4455:
4454:
4451:
4447:
4444:
4442:
4439:
4437:
4434:
4433:
4432:
4429:
4428:
4427:
4424:
4423:
4421:
4419:
4414:
4410:
4407:
4405:
4401:
4398:
4396:
4391:
4387:
4377:
4374:
4372:
4369:
4365:
4362:
4361:
4360:
4357:
4356:
4354:
4352:
4347:
4339:
4336:
4335:
4334:
4333:Brain abscess
4331:
4329:
4326:
4322:
4319:
4317:
4314:
4312:
4309:
4307:
4304:
4303:
4302:
4299:
4298:
4296:
4294:
4290:
4287:
4285:
4281:
4277:
4273:
4265:
4260:
4258:
4253:
4251:
4246:
4245:
4242:
4229:
4225:
4224:
4220:
4218:
4214:
4213:
4209:
4207:
4203:
4202:
4198:
4196:
4192:
4191:
4187:
4185:
4181:
4180:
4176:
4175:
4172:
4168:
4161:
4157:
4156:
4152:
4150:
4146:
4145:
4141:
4139:
4135:
4134:
4130:
4128:
4124:
4123:
4119:
4115:
4113:
4109:
4108:
4104:
4100:
4099:
4096:
4091:
4087:
4081:
4078:
4076:
4073:
4072:
4051:
4047:
4043:
4036:
4028:
4024:
4019:
4014:
4010:
4006:
4002:
3998:
3994:
3987:
3968:
3961:
3955:
3947:
3943:
3938:
3933:
3929:
3925:
3921:
3917:
3913:
3906:
3898:
3894:
3890:
3886:
3882:
3878:
3874:
3870:
3863:
3852:
3846:
3838:
3834:
3830:
3826:
3822:
3818:
3814:
3810:
3802:
3794:
3790:
3785:
3780:
3775:
3770:
3766:
3762:
3758:
3754:
3750:
3743:
3735:
3731:
3727:
3723:
3719:
3715:
3708:
3700:
3696:
3691:
3686:
3683:(1): 91–102.
3682:
3678:
3674:
3667:
3652:
3648:
3642:
3626:
3622:
3616:
3608:
3604:
3599:
3594:
3590:
3586:
3582:
3578:
3574:
3567:
3551:
3547:
3543:
3537:
3529:
3523:
3514:
3510:
3505:
3500:
3496:
3492:
3488:
3484:
3480:
3473:
3465:
3461:
3457:
3453:
3448:
3443:
3439:
3435:
3432:(5): 512–20.
3431:
3427:
3423:
3416:
3400:
3396:
3392:
3386:
3370:
3366:
3362:
3356:
3340:
3336:
3332:
3326:
3310:
3306:
3305:
3300:
3294:
3279:
3275:
3268:
3260:
3256:
3252:
3248:
3244:
3240:
3236:
3232:
3228:
3224:
3217:
3209:
3205:
3200:
3195:
3191:
3187:
3183:
3176:
3169:
3165:
3161:
3158:
3152:
3144:
3140:
3136:
3132:
3128:
3125:(in German).
3124:
3120:
3113:
3105:
3101:
3097:
3093:
3090:(1–2): 1–26.
3089:
3086:(in German).
3085:
3078:
3070:
3066:
3062:
3058:
3054:
3051:(in German).
3050:
3043:
3035:
3031:
3027:
3023:
3019:
3016:(in German).
3015:
3008:
3002:
3001:Who Named It?
2998:
2997:
2991:
2983:
2979:
2975:
2971:
2966:
2961:
2957:
2953:
2949:
2942:
2934:
2930:
2926:
2922:
2915:
2907:
2903:
2898:
2893:
2889:
2885:
2881:
2874:
2855:
2851:
2847:
2842:
2837:
2833:
2829:
2825:
2821:
2814:
2807:
2799:
2795:
2791:
2787:
2783:
2779:
2775:
2771:
2763:
2754:
2749:
2745:
2741:
2737:
2730:
2728:
2719:
2715:
2710:
2705:
2701:
2697:
2693:
2689:
2685:
2678:
2670:
2664:
2660:
2656:
2652:
2645:
2643:
2641:
2639:
2630:
2626:
2621:
2616:
2612:
2608:
2604:
2600:
2596:
2589:
2573:
2569:
2567:
2558:
2552:
2535:
2531:
2527:
2521:
2513:
2509:
2505:
2501:
2497:
2493:
2489:
2485:
2478:
2462:
2458:
2454:
2450:
2446:
2442:
2438:
2434:
2430:
2426:
2419:
2403:
2399:
2395:
2389:
2382:
2381:public domain
2363:
2359:
2357:
2351:
2345:
2343:
2341:
2324:
2320:
2316:
2310:
2308:
2306:
2297:
2293:
2288:
2283:
2278:
2273:
2269:
2265:
2261:
2254:
2239:
2233:
2217:
2213:
2209:
2203:
2196:
2195:public domain
2177:
2173:
2167:
2165:
2163:
2154:
2150:
2145:
2140:
2136:
2132:
2128:
2124:
2120:
2113:
2105:
2101:
2096:
2091:
2086:
2081:
2077:
2073:
2069:
2062:
2054:
2050:
2045:
2040:
2035:
2030:
2026:
2022:
2018:
2012:
2010:
2001:
1997:
1992:
1987:
1983:
1979:
1975:
1971:
1967:
1960:
1958:
1949:
1945:
1940:
1935:
1931:
1927:
1923:
1919:
1915:
1908:
1900:
1896:
1891:
1886:
1881:
1876:
1872:
1868:
1864:
1857:
1855:
1853:
1851:
1842:
1838:
1834:
1830:
1825:
1820:
1816:
1812:
1808:
1801:
1799:
1797:
1795:
1793:
1791:
1789:
1780:
1776:
1772:
1768:
1764:
1760:
1757:(3): 485–95.
1756:
1752:
1745:
1737:
1733:
1728:
1723:
1719:
1715:
1712:(8): 831–42.
1711:
1707:
1703:
1696:
1688:
1684:
1680:
1676:
1672:
1668:
1664:
1660:
1653:
1651:
1642:
1638:
1633:
1628:
1623:
1618:
1614:
1610:
1606:
1599:
1597:
1588:
1584:
1579:
1574:
1571:(8): 1261–6.
1570:
1566:
1562:
1555:
1547:
1543:
1538:
1533:
1529:
1525:
1521:
1514:
1506:
1502:
1497:
1492:
1487:
1482:
1478:
1474:
1470:
1463:
1455:
1451:
1447:
1443:
1440:(4): 339–45.
1439:
1435:
1428:
1426:
1417:
1413:
1408:
1403:
1399:
1395:
1391:
1384:
1382:
1365:
1361:
1355:
1353:
1351:
1349:
1347:
1345:
1343:
1341:
1324:
1320:
1314:
1306:
1302:
1298:
1294:
1290:
1286:
1282:
1278:
1271:
1264:
1262:
1260:
1251:
1247:
1242:
1237:
1233:
1229:
1225:
1221:
1217:
1210:
1202:
1198:
1193:
1188:
1184:
1180:
1176:
1172:
1168:
1161:
1159:
1157:
1155:
1153:
1151:
1149:
1147:
1142:
1131:
1127:
1124:
1121:
1117:
1114:
1111:
1107:
1103:
1099:
1096:
1093:
1090:
1087:
1086:
1077:
1073:
1070:
1067:
1063:
1062:
1053:
1049:
1046:
1045:
1036:
1032:
1028:
1024:
1020:
1016:
1012:
1009:. RT001 is a
1008:
1005:is advancing
1004:
1001:
998:
994:
990:
986:
982:
981:
975:
972:
968:
966:
962:
961:Omaveloxolone
958:
954:
944:
941:
940:
939:
933:
931:
927:
922:
920:
915:
913:
908:
906:
902:
901:
896:
894:
890:
889:
882:
877:
868:
865:
863:
858:
856:
852:
850:
846:
842:
838:
829:
820:
818:
814:
810:
805:
796:
794:
789:
781:
779:
775:
771:
761:
759:
755:
751:
747:
746:beta blockers
743:
739:
735:
731:
727:
717:
715:
711:
706:
704:
700:
696:
694:
690:
680:
676:
664:
660:
656:
652:
650:
646:
642:
641:Omaveloxolone
638:
633:
626:
625:Omaveloxolone
618:Omaveloxolone
610:
601:
599:
596:, and other
595:
591:
587:
582:
580:
576:
572:
568:
564:
560:
556:
552:
548:
544:
534:
532:
526:
524:
520:
516:
506:
502:
500:
499:motor neurons
496:
495:myelin sheath
491:
489:
483:
475:
472:
468:
464:
460:
456:
452:
447:
445:
442:
438:
437:transcription
434:
430:
426:
422:
418:
414:
409:
407:
398:
389:
387:
383:
373:
369:
367:
363:
359:
358:stomping gait
355:
351:
347:
343:
339:
334:
332:
328:
325:
314:
312:
308:
304:
300:
296:
295:heart murmurs
292:
288:
284:
280:
276:
266:
264:
260:
256:
246:
243:
242:Omaveloxolone
239:
234:
232:
228:
223:
221:
220:
214:
204:
200:
196:
192:
188:
186:
182:
179:
178:Omaveloxolone
176:
174:
170:
166:
162:
158:
156:
152:
148:
146:
142:
138:
134:
130:
126:
122:
118:
114:
111:
107:
103:
100:
98:
97:Complications
94:
90:
88:
84:
81:
77:
74:
72:
68:
61:
60:
58:
56:Pronunciation
54:
51:
47:
43:
38:
34:
30:
25:
19:
5500:
5430:anticipation
5382:
5362:
5348:
5334:
5273:
5143:
5042:
5015:
4992:
4976:Degenerative
4713:Inflammatory
4660:
4593:Stiff-person
4431:Parkinsonism
4404:Degenerative
4301:Encephalitis
4284:Inflammation
4274:, primarily
4221:
4210:
4199:
4188:
4177:
4153:
4142:
4131:
4116:
4101:
4054:. Retrieved
4050:the original
4045:
4035:
4000:
3997:Gene Therapy
3996:
3986:
3974:. Retrieved
3967:the original
3954:
3919:
3916:Cell Reports
3915:
3905:
3872:
3868:
3862:
3845:
3812:
3808:
3801:
3756:
3752:
3742:
3717:
3713:
3707:
3680:
3676:
3666:
3654:. Retrieved
3650:
3647:"The FA App"
3641:
3629:. Retrieved
3624:
3615:
3583:(1): 15–26.
3580:
3576:
3566:
3554:. Retrieved
3550:the original
3545:
3536:
3522:
3486:
3482:
3472:
3429:
3425:
3415:
3403:. Retrieved
3394:
3385:
3373:. Retrieved
3364:
3355:
3343:. Retrieved
3334:
3325:
3313:. Retrieved
3302:
3293:
3281:. Retrieved
3277:
3267:
3226:
3222:
3216:
3189:
3185:
3175:
3167:
3155:Adam Shatz,
3151:
3126:
3122:
3112:
3087:
3083:
3077:
3052:
3048:
3042:
3017:
3013:
3007:
2994:
2990:
2955:
2951:
2941:
2924:
2920:
2914:
2887:
2883:
2873:
2861:. Retrieved
2823:
2819:
2806:
2773:
2769:
2762:
2746:(2): 81–84.
2743:
2739:
2691:
2687:
2677:
2650:
2605:(1): 49–65.
2602:
2598:
2588:
2576:. Retrieved
2563:
2551:
2538:. Retrieved
2520:
2487:
2483:
2477:
2465:. Retrieved
2432:
2428:
2418:
2406:. Retrieved
2397:
2388:
2366:. Retrieved
2353:
2327:. Retrieved
2318:
2267:
2263:
2253:
2241:. Retrieved
2232:
2220:. Retrieved
2211:
2202:
2180:. Retrieved
2126:
2122:
2112:
2075:
2071:
2061:
2024:
2020:
1973:
1969:
1921:
1917:
1907:
1870:
1866:
1814:
1810:
1754:
1750:
1744:
1709:
1705:
1695:
1665:(2): 200–6.
1662:
1658:
1612:
1608:
1568:
1564:
1554:
1527:
1523:
1513:
1476:
1472:
1462:
1437:
1433:
1397:
1393:
1368:. Retrieved
1327:. Retrieved
1313:
1280:
1276:
1223:
1219:
1209:
1177:(1): 19–30.
1174:
1170:
1095:Nicotinamide
1023:mitochondria
973:
969:
950:
936:
935:
934:
923:
916:
909:
898:
897:
886:
885:
866:
859:
855:Frantz Fanon
853:
834:
806:
802:
799:Epidemiology
790:
787:
767:
742:trandolapril
723:
707:
697:
687:Well-fitted
686:
677:
673:
653:
639:
637:
613:Therapeutics
607:
583:
579:genetic test
540:
527:
512:
503:
492:
484:
481:
448:
441:Heterozygous
412:
410:
405:
403:
379:
370:
335:
320:
277:, including
272:
252:
235:
226:
224:
217:
212:
210:
145:Risk factors
136:
135:Mutation in
18:
5328:Chromosomal
5128:Fazio–Londe
4968:Both/either
4762:Generalised
4621:Early-onset
4616:Alzheimer's
4351:spinal cord
4212:GeneReviews
4179:MedlinePlus
3651:The FA App)
3405:14 December
3375:14 December
3345:14 December
2540:16 December
2467:16 December
2408:28 February
2368:28 February
2329:16 December
1873:(1): 1–12.
1329:10 February
1120:fibroblasts
1089:Resveratrol
997:glutathione
905:Kyle Bryant
900:The Ataxian
841:neurologist
837:pathologist
563:blood tests
303:tachycardia
291:hypertrophy
116:Usual onset
32:Other names
5600:Categories
5261:Myopathies
5231:Primarily
4736:paroxysmal
4708:Autoimmune
4501:Dyskinesia
4371:Meningitis
4349:Brain and
4201:Patient UK
4155:DiseasesDB
2863:29 October
2484:Cerebellum
2270:(1): 415.
1817:: 104606.
1370:23 October
1137:References
1116:Lentivirus
1110:epigenetic
1072:Etravirine
1011:deuterated
862:New France
754:eplerenone
738:lisinopril
693:spasticity
645:medication
429:epigenetic
423:1 of both
338:cerebellar
279:dysarthria
263:dysarthria
173:Medication
5383:see also
4733:Episodic/
4611:Tauopathy
4562:Akathisia
4550:Myoclonus
4533:Athetosis
4465:Tauopathy
4190:eMedicine
3815:: 34–45.
3720:: 57–67.
3395:GULF NEWS
2578:9 January
2512:258843532
2457:258567442
2182:26 August
2053:220291178
1924:: 34–44.
1841:201839487
1277:Neurology
1035:deuterium
1003:Retrotope
864:in 1634.
784:Prognosis
730:enalapril
537:Diagnosis
531:aconitase
386:pes cavus
382:scoliosis
350:dysmetria
342:nystagmus
257:and limb
194:Frequency
185:Prognosis
164:Treatment
106:scoliosis
76:Neurology
71:Specialty
5590:Medicine
5099:SMALED2B
5094:SMALED2A
4791:Migraine
4783:Headache
4749:epilepsy
4745:Seizures
4603:Dementia
4506:Dystonia
4223:Orphanet
4056:21 April
4027:27518705
3946:28228265
3897:58567610
3889:30624801
3829:28504123
3793:31158268
3753:PLOS ONE
3734:80157839
3699:22115768
3631:27 April
3607:30656180
3556:22 March
3513:23350650
3464:23906747
3456:24720753
3399:Archived
3369:Archived
3339:Archived
3309:Archived
3259:20303793
3160:Archived
3143:42155823
3104:46459932
3069:34515886
3034:42991858
2982:39343424
2974:23859338
2854:Archived
2850:31453516
2798:27569800
2790:28039539
2718:32588316
2629:26782317
2572:Archived
2534:Archived
2504:37219716
2461:Archived
2449:37155124
2402:Archived
2362:Archived
2323:Archived
2319:DailyMed
2296:36371255
2222:17 March
2216:Archived
2176:Archived
2153:22752491
2104:25928624
2000:25113747
1948:31918395
1899:30705738
1833:31494282
1779:26709558
1771:26704351
1736:26339677
1687:24885238
1641:28405347
1505:32714592
1454:21734495
1416:23859346
1364:Archived
1323:Archived
1305:51956258
1297:30097477
1250:28904984
1201:29053830
1031:hydrogen
947:Research
734:ramipril
728:such as
689:orthoses
649:by mouth
575:CT scans
509:Frataxin
459:intronic
455:nonsense
451:missense
444:carriers
392:Genetics
346:saccadic
249:Symptoms
231:frataxin
124:Duration
110:diabetes
87:Symptoms
80:Genetics
50:Frataxin
5560:ATTCT (
5111:SMA-PME
5106:SMA-PCH
5089:SMALED1
4801:Tension
4796:Cluster
4521:Meige's
4338:Amoebic
4149:D005621
4018:5143368
3976:8 April
3937:5329121
3784:6546270
3761:Bibcode
3598:6331199
3504:3797453
3434:Bibcode
3315:12 June
3251:8596916
3231:Bibcode
3223:Science
3208:6391645
2933:8174325
2906:8815938
2841:6657791
2709:7471180
2620:4768799
2287:9652828
2144:3674546
2095:4280001
2078:: 184.
2044:3873538
1991:4245046
1939:7237328
1890:6354072
1727:4554444
1679:9989622
1632:5383992
1587:9259271
1546:8815938
1496:7373238
1241:5590524
1192:5862303
1015:omega-6
957:RTA 408
823:History
815:in the
758:digoxin
683:Devices
425:alleles
344:, fast
5576:Portal
5542:CCTG (
5364:TIMM8A
4830:Stroke
4644:Pick's
4571:Tremor
4538:Chorea
4184:001411
4138:229300
4025:
4015:
3944:
3934:
3895:
3887:
3837:402724
3835:
3827:
3791:
3781:
3732:
3697:
3656:8 July
3605:
3595:
3511:
3501:
3462:
3454:
3283:8 July
3257:
3249:
3206:
3141:
3102:
3067:
3032:
2980:
2972:
2931:
2904:
2848:
2838:
2796:
2788:
2716:
2706:
2665:
2627:
2617:
2510:
2502:
2455:
2447:
2294:
2284:
2151:
2141:
2102:
2092:
2051:
2041:
1998:
1988:
1946:
1936:
1897:
1887:
1839:
1831:
1777:
1769:
1734:
1724:
1685:
1677:
1639:
1629:
1585:
1544:
1503:
1493:
1452:
1414:
1303:
1295:
1248:
1238:
1199:
1189:
469:and a
467:allele
421:intron
356:, and
309:, and
283:ataxia
259:ataxia
219:ataxia
202:Deaths
132:Causes
5520:CAG (
5513:CTG (
5506:CTG (
5499:GAA (
5492:CGG (
5350:SARS2
5314:MNGIE
5286:MERRF
5281:MELAS
5144:both:
5076:DSMA1
5071:SMAX2
5066:SMAX1
5046:only:
5019:only:
4923:Other
4845:Other
4757:Focal
4390:Brain
4293:Brain
4127:334.0
4112:G11.1
3970:(PDF)
3963:(PDF)
3893:S2CID
3854:(PDF)
3833:S2CID
3730:S2CID
3460:S2CID
3335:Slate
3255:S2CID
3139:S2CID
3100:S2CID
3065:S2CID
3030:S2CID
2978:S2CID
2857:(PDF)
2816:(PDF)
2794:S2CID
2568:(FDA)
2564:U.S.
2560:(PDF)
2508:S2CID
2453:S2CID
2429:Drugs
2358:(FDA)
2354:U.S.
2243:8 May
2049:S2CID
1837:S2CID
1775:S2CID
1683:S2CID
1615:: 4.
1301:S2CID
1273:(PDF)
1106:ncRNA
1007:RT001
930:Dubai
740:, or
457:, or
5336:OPA1
5293:CPEO
5251:NARP
5246:LHON
5222:PDHA
4747:and
4458:PKAN
4453:NBIA
4160:4980
4144:MeSH
4133:OMIM
4122:9-CM
4058:2019
4023:PMID
3978:2019
3942:PMID
3885:PMID
3825:PMID
3789:PMID
3695:PMID
3658:2021
3633:2021
3603:PMID
3558:2021
3509:PMID
3452:PMID
3407:2018
3377:2018
3347:2018
3317:2015
3285:2009
3247:PMID
3204:PMID
2970:PMID
2929:PMID
2902:PMID
2865:2018
2846:PMID
2786:PMID
2714:PMID
2663:ISBN
2625:PMID
2580:2024
2542:2023
2500:PMID
2469:2023
2445:PMID
2410:2023
2370:2023
2331:2023
2292:PMID
2245:2023
2224:2019
2184:2017
2149:PMID
2100:PMID
1996:PMID
1944:PMID
1895:PMID
1829:PMID
1767:PMID
1732:PMID
1675:PMID
1637:PMID
1583:PMID
1542:PMID
1501:PMID
1450:PMID
1412:PMID
1372:2018
1331:2019
1293:PMID
1246:PMID
1197:PMID
965:Nrf2
839:and
573:and
364:and
255:gait
139:gene
5309:DAD
5269:KSS
5217:PCD
5061:SMA
5044:LMN
5017:UMN
5008:MND
4874:CSF
4825:TIA
4470:PSP
4446:NMS
4415:and
4276:CNS
4118:ICD
4103:ICD
4013:PMC
4005:doi
3932:PMC
3924:doi
3877:doi
3817:doi
3813:123
3779:PMC
3769:doi
3722:doi
3685:doi
3681:105
3593:PMC
3585:doi
3499:PMC
3491:doi
3442:doi
3430:181
3365:ITV
3239:doi
3227:271
3194:doi
3131:doi
3092:doi
3057:doi
3022:doi
2999:at
2960:doi
2956:126
2892:doi
2888:335
2836:PMC
2828:doi
2778:doi
2748:doi
2704:PMC
2696:doi
2655:doi
2615:PMC
2607:doi
2492:doi
2437:doi
2282:PMC
2272:doi
2139:PMC
2131:doi
2090:PMC
2080:doi
2039:PMC
2029:doi
2025:288
1986:PMC
1978:doi
1934:PMC
1926:doi
1885:PMC
1875:doi
1819:doi
1815:132
1759:doi
1722:PMC
1714:doi
1667:doi
1627:PMC
1617:doi
1573:doi
1532:doi
1528:335
1491:PMC
1481:doi
1442:doi
1402:doi
1398:126
1285:doi
1236:PMC
1228:doi
1187:PMC
1179:doi
1175:124
1102:RNA
1100:An
756:or
701:or
571:MRI
419:in
413:FXN
406:FXN
227:FXN
137:FXN
5602::
5428::
4985:SA
4492:OA
4487:HD
4436:PD
4228:95
4226::
4215::
4204::
4193::
4182::
4158::
4147::
4136::
4125::
4110::
4107:10
4044:.
4021:.
4011:.
4001:23
3999:.
3995:.
3940:.
3930:.
3920:18
3918:.
3914:.
3891:.
3883:.
3873:34
3871:.
3831:.
3823:.
3811:.
3787:.
3777:.
3767:.
3757:14
3755:.
3751:.
3728:.
3716:.
3693:.
3679:.
3675:.
3649:.
3623:.
3601:.
3591:.
3579:.
3575:.
3544:.
3507:.
3497:.
3487:19
3485:.
3481:.
3458:.
3450:.
3440:.
3428:.
3424:.
3393:.
3363:.
3333:.
3301:.
3276:.
3253:.
3245:.
3237:.
3225:.
3202:.
3190:11
3188:.
3184:.
3166:,
3137:.
3127:68
3098:.
3088:27
3063:.
3053:26
3028:.
3018:26
2976:.
2968:.
2954:.
2950:.
2925:33
2923:.
2900:.
2886:.
2882:.
2852:.
2844:.
2834:.
2824:64
2822:.
2818:.
2792:.
2784:.
2774:38
2772:.
2742:.
2738:.
2726:^
2712:.
2702:.
2692:19
2690:.
2686:.
2661:.
2637:^
2623:.
2613:.
2601:.
2597:.
2562:.
2528:.
2506:.
2498:.
2488:23
2486:.
2459:.
2451:.
2443:.
2433:83
2431:.
2427:.
2396:.
2352:.
2339:^
2317:.
2304:^
2290:.
2280:.
2268:17
2266:.
2262:.
2214:.
2210:.
2161:^
2147:.
2137:.
2127:27
2125:.
2121:.
2098:.
2088:.
2074:.
2070:.
2047:.
2037:.
2023:.
2019:.
2008:^
1994:.
1984:.
1974:23
1972:.
1968:.
1956:^
1942:.
1932:.
1922:55
1920:.
1916:.
1893:.
1883:.
1871:11
1869:.
1865:.
1849:^
1835:.
1827:.
1813:.
1809:.
1787:^
1773:.
1765:.
1755:79
1753:.
1730:.
1720:.
1708:.
1704:.
1681:.
1673:.
1663:45
1661:.
1649:^
1635:.
1625:.
1611:.
1607:.
1595:^
1581:.
1567:.
1563:.
1540:.
1526:.
1522:.
1499:.
1489:.
1475:.
1471:.
1448:.
1438:24
1436:.
1424:^
1410:.
1396:.
1392:.
1380:^
1339:^
1321:.
1299:.
1291:.
1281:91
1279:.
1275:.
1258:^
1244:.
1234:.
1222:.
1218:.
1195:.
1185:.
1173:.
1169:.
1145:^
843:,
736:,
732:,
651:.
600:.
592:,
561:,
557:,
553:,
549:,
490:.
461:)
453:,
384:,
368:.
333:.
305:,
301:,
297:,
293:,
261:,
108:,
104:,
78:,
5578::
5564:)
5546:)
5524:)
5517:)
5510:)
5503:)
5496:)
5476:)
5472:(
5418:e
5411:t
5404:v
5193:e
5186:t
5179:v
4637:/
4392:/
4263:e
4256:t
4249:v
4120:-
4105:-
4095:D
4060:.
4029:.
4007::
3980:.
3948:.
3926::
3899:.
3879::
3856:.
3839:.
3819::
3795:.
3771::
3763::
3736:.
3724::
3718:6
3701:.
3687::
3660:.
3635:.
3609:.
3587::
3581:6
3560:.
3517:.
3515:.
3493::
3466:.
3444::
3436::
3409:.
3379:.
3349:.
3319:.
3287:.
3261:.
3241::
3233::
3210:.
3196::
3145:.
3133::
3106:.
3094::
3071:.
3059::
3036:.
3024::
2984:.
2962::
2935:.
2908:.
2894::
2867:.
2830::
2800:.
2780::
2756:.
2750::
2744:4
2720:.
2698::
2671:.
2657::
2631:.
2609::
2603:6
2582:.
2544:.
2514:.
2494::
2471:.
2439::
2412:.
2383:.
2372:.
2333:.
2298:.
2274::
2247:.
2226:.
2197:.
2186:.
2155:.
2133::
2106:.
2082::
2076:9
2055:.
2031::
2002:.
1980::
1950:.
1928::
1901:.
1877::
1843:.
1821::
1781:.
1761::
1738:.
1716::
1710:2
1689:.
1669::
1643:.
1619::
1613:4
1589:.
1575::
1569:6
1548:.
1534::
1507:.
1483::
1477:2
1456:.
1444::
1418:.
1404::
1374:.
1333:.
1307:.
1287::
1252:.
1230::
1224:4
1203:.
1181::
1122:.
1054:.
1037:.
999:.
959:(
665:.
627:.
216:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.